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PubMed2001

Detection of chromosome abnormalities pre-high-dose treatment in patients developing therapy-related myelodysplasia and secondary acute myelogenous leukemia after treatment for non-Hodgkin's lymphoma.

PURPOSE: To assess whether pre-high-dose therapy (HDT)-related factors play a critical role in the development of therapy-related myelodysplasia (tMDS) or secondary acute myelogenous leukemia (sAML). PATIENTS AND METHODS: Twenty-nine of 230 patients with a primary diagnosis of non-Hodgkin's lymphoma (NHL) developed tMDS/sAML after HDT comprising cyclophosphamide and total-body irradiation (TBI) supported by autologous hematopoietic progenitor cells. G-banding and fluorescence in-situ hybridization (FISH) were used to detect clonal cytogenetic abnormalities. RESULTS: The majority of patients showed complex karyotypes at diagnosis of tMDS/sAML containing, in particular, complete or partial loss of chromosomes 5 and/or 7. Using single locus-specific FISH probes, significant levels of clonally abnormal cells were found before HDT in 20 of 20 tMDS/sAML patients screened, compared with three of 24 patients screened who currently have not developed tMDS/sAML, at a median follow-up of 5.9 years after HDT. CONCLUSION: Prior cytotoxic therapy may play an important etiologic role and may predispose to the development of tMDS/sAML. Using a triple FISH assay designed to detect loss of chromosomal material from 5q31, 7q22, or 13q14, significant levels of abnormal cells can be detected before HDT and may predict which patients are at increased risk of developing secondary disease. Further prospective evaluation of this FISH assay is warranted to determine its predictive power in this setting.

Chromosome Aberrations↗
PubMed1985

Chromosomal abnormalities in lymphoid crisis of chronic myelogenous leukemia.

The karyotypes in six patients with Ph-positive chronic myelogenous leukemia (CML) were investigated during the lymphoid crisis associated with high levels of terminal deoxynucleotidyl transferase (TdT) and/or the common acute lymphoblastic antigen (CALLA). Five of the six patients had only the Ph chromosome, with no other karyotypic abnormalities. The remaining one patient had a hypodiploid karyotype: 44,XY, -1, + der(1;?)(p22;?), -3, -4, -6, -7, -8, -9, +22q-, + mar1, + mar2, + mar3. In four patients with lymphoid crisis expressing TdT and CALLA, the response to treatment with vincristine (VCR) and prednisolone (PRD) was satisfactory, except for the one patient whose karyotype was hypodiploid. A discussion is presented as to whether or not there is a correlation between the karyotypic changes, using banding methods, and TdT expression in patients whose blast cells were categorized morphologically as lymphoblastic at the onset of the blastic phase of CML. Sequential chromosome examinations during the chronic and blastic phases of CML were also performed in this study.

Adult↗
PubMed1996

Fluorescence in situ hybridization analysis of t(3; 12)(q26; p13): a recurring chromosomal abnormality involving the TEL gene (ETV6) in myelodysplastic syndromes.

We have identified a new recurrent reciprocal translocation between chromosome 3 and 12 with breakpoints at bands 3q26 and 12p13, t(3;12)(q26;p13) in the malignant cells from five patients with acute transformation of myelodysplastic syndrome or blast crisis of chronic myelogenous leukemia. t(3;12)(q26;p13) appears as a rare but nonrandom event present in various myeloid leukemia subtypes, which is frequently associated with dysplasia of megakaryocytes, multilineage involvement, short duration of any blastic phase, and a very poor prognosis. Here, we report the molecular cytogenetic analysis of the t(3;12). Fluorescence in situ hybridization results indicate that the 3q26 breakpoints are quite heterogeneous and occur 5' of MDS1, 3' of EVI1, or between MDS1 and EVI1. Our results are very similar to those observed in other 3q26 rearrangements in which breakpoints were shown to occur over considerable distances 5' and 3' of EVI1. Fluorescence in situ hybridization investigations proved that, in three myelodysplastic syndrome cases with t(3;12)(q26;p13), the 12p 13 breakpoint occurred within the TEL gene.

Adult↗
PubMed2000

[Subcutaneous panniculitic T-cell lymphoma with chromosomal abnormalities and large granular lymphocytes morphology].

A 72-year-old woman was admitted because of a subcutaneous hip tumor. A biopsy specimen of the tumor showed a mixture of medium-sized and large lymphocytes infiltrating the subcutaneous fat tissue with a lobular panniculitis-like pattern--a histologic feature of subcutaneous panniculitic T-cell lymphoma (SPTCL). May-Grünwald-Giemsa-stained cytospin slides of freshly isolated neoplastic cell explants showed that the cells had the characteristics of large granular lymphocytes. Immunophenotypic analysis showed that the cells expressed CD56--a natural killer-associated antigen--as well as the cytotoxic T-cell phenotype CD3+ CD4- CD8+. Southern blot analysis revealed rearrangement bands of the TCR-beta chain gene. Chromosome analysis showed complex abnormalities including t(1;6) (q11; p21). The present case may shed some light on the origin and pathogenesis of SPTCL.

Aged↗
PubMed2000

Human embryos derived from in vitro and in vivo matured oocytes: analysis for chromosomal abnormalities and nuclear morphology.

PURPOSE: To determine whether embryos resulting from oocytes matured in vitro have a higher incidence of nuclear and/or genetic abnormalities compared to embryos resulting from oocytes matured in vivo. METHODS: Fluorescence in situ hybridization analysis for chromosomes X, Y, and 18 was used to compare the rates of aneuploidy, mosaicism, and nuclear abnormalities in embryos derived from oocytes that were prophase I at aspiration (immature group) to that observed in embryos resulting from oocytes that were metaphase I or II at aspiration (mature group). RESULTS: Based on nuclear morphology, significantly more embryos in the mature group (23%) were classified as normal compared to embryos in the immature group (3%). No difference was found in the rate of aneuploidy or in the incidence of mosaicism involving these chromosomes. CONCLUSIONS: These findings suggest that few embryos derived from prophase I oocytes collected following ovarian stimulation are morphologically normal.

Aneuploidy↗
PubMed1991

Establishment of a new Epstein-Barr virus nuclear antigen-positive B-cell line, BALL-2, with t(8;14) (q24;q32) chromosome abnormality from B-cell acute lymphoblastic leukemia, L2.

A new Epstein-Barr virus nuclear antigen (EBNA)-positive B-cell line, designated BALL-2, was spontaneously established from the peripheral blood of a 14-year-old boy with an EBNA-negative B-cell acute lymphoblastic leukemia (B-ALL), L2 in the French-American-British classification. The BALL-2 cell line grew in suspension with or without forming clumps of cells. The cultured cells exhibited lymphoid morphology with indented or lobulated nuclei, prominent nucleoli, and relatively abundant cytoplasm. Immunologic and cytogenetic studies showed that the BALL-2 cell line expressed the B-cell phenotype, CpIg+, SmIg+, CD19+, CD20+, CD38-, Ia+, and had chromosome translocation, t(8;14) (q24;q32). The same phenotypic and chromosome markers were present in original leukemia cells. These results indicated that the cell line was derived from the patient's leukemia cells. Unexpectedly, however, BALL-2 cells were positive for EBNA and EB virus DNA. Gene analysis of the BALL-2 cell line showed biallelic rearrangements in the JH locus. One of the JH rearrangement comigrated with a rearranged c-myc gene, indicating the translocation had occurred between JH and c-myc loci. The t(8;14) abnormality is a known chromosome marker of Burkitt lymphoma and L3 type ALL. Our studies revealed that this translocation and myc gene rearrangement can also be found in L2 type B-ALL.

Adolescent↗
PubMed1989

Diverse chromosome abnormalities in squamous cell carcinomas of the skin.

Short-term cultures from three invasive squamous cell carcinomas of the skin were cytogenetically analyzed. Clonal chromosome aberrations were found in all tumors. In the first case, two of three abnormal clones were related, and in the second case, two of five clones demonstrated cytogenetic similarities. Both clones detected in case 3 had a structural rearrangement in common. Several nonclonal changes were seen in all three cases in addition to the clonal aberrations. None of the rearrangements detected, clonal or nonclonal, corresponds to any of the consistently cancer-associated aberrations known from other neoplasms. The remarkably diverse karyotypic picture of the three squamous cell carcinomas, in particular the finding of unrelated clones in two of them, hints that these neoplasms may be poly-rather than monoclonal. The lack of a common cytogenetic denominator argues that if chromosomal changes are of pathogenetic importance in this tumor type, a wide variety of apparently dissimilar changes exist that are roughly equal in their capacity to malignantly transform skin epithelium.

Aged↗
PubMed1996

Chromosome abnormalities in colorectal adenomas: two cytogenetic subgroups characterized by deletion of 1p and numerical aberrations.

Cytogenetic analysis of short-term cultures from 34 benign colorectal polyps, all histologically verified as adenomas, revealed clonal chromosome aberrations in 21 of them. Eight polyps had structural rearrangements, whereas only numerical changes were found in 13. A combination of structural and numerical chromosomal aberrations was found in three polyps. The most common numerical change was gain of chromosome 7, found either as the sole anomaly (five polyps), together with other numerical changes (six polyps), or together with structural rearrangements (two polyps). Other recurrent numerical changes were +20, +13, and monosomy 18, found in six, five, and two adenomas, respectively. Rearrangement of chromosome 1 was the most common structural change. Abnormalities involving 1p were seen in six adenomas, leading to visible loss of material in three. One adenoma had one clone with a large and another with a small 1p deletion. In three adenomas, del(1)(p36) was the only cytogenetic aberration, supporting the authors' previous conclusion that loss of one or more gene loci in band 1p36 is a common early change in colorectal tumorigenesis. Chromosome 8 was involved in structural changes in two adenomas; in one this led to loss of 8p and in the other to gain of 8q. The cytogenetic findings did not correlate in a statistically significant manner with clinicopathologic parameters, such as grade of dysplasia, macroscopic or microscopic adenoma structure, tumor size and location, or the patients' sex and age.

Adenoma↗
PubMed1982

Ethical and legal issues in medical management of sex chromosome-abnormal adolescents.

The primary purpose of this paper is to consider ethical and legal issues raised in medical management of adolescents with XYY, XXY and XXX chromosomal characteristics. It will therefore focus upon the issues of informing the parents of affected adolescents, and the adolescents themselves of their condition and its implications, upon medical and other responses to the implications, and upon research and experimentation conducted to relieve and improve the medical, psychologic, and educational state of affected children. Before considering these central issues of clinical management, however, at least brief attention must be paid to preliminary matters of a social, public health, or health policy nature. These matters concern prenatal identification of the chromosomal condition, and newborn screening programs aimed at detection of general or specific genetic abnormalities. Further, after the more central issues have been considered, some thoughts ought to be given to use and possible misuse of genetic data in modern societies, although space unfortunately will not permit such thoughts to be explored here [1].

Ethics, Medical↗